MCID: ATS173
MIFTS: 19

Autism 18

Categories: Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Autism 18

MalaCards integrated aliases for Autism 18:

Name: Autism 18 53 71
Autism, Susceptibility to, 18 53 28 13
Auts18 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31

Classifications:



Summaries for Autism 18

OMIM : 53 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. (615032)

MalaCards based summary : Autism 18, is also known as autism, susceptibility to, 18, and has symptoms including constipation, seizures and macrocephaly. An important gene associated with Autism 18 is CHD8 (Chromodomain Helicase DNA Binding Protein 8).

UniProtKB/Swiss-Prot : 71 Autism 18: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Related Diseases for Autism 18

Symptoms & Phenotypes for Autism 18

Symptoms via clinical synopsis from OMIM:

53
Growth Height:
tall (86%)

Head And Neck Eyes:
supraorbital ridge (78%)
downslanting palpebral fissures (67%)

Neurologic Central Nervous System:
autism (80%)
intellectual disability (60%)
seizures (20%)
regression (47%)

Head And Neck Head:
macrocephaly (80%)

Abdomen Gastroin testinal:
gastrointestinal problems (80%)
constipation (60%)

Neurologic Behavioral Psychiatric Manifestations:
sleep disturbances (67%)
difficulty falling asleep (44%)


Clinical features from OMIM:

615032

Human phenotypes related to Autism 18:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 seizures 31 HP:0001250
3 macrocephaly 31 HP:0000256
4 hypertelorism 31 HP:0000316
5 intellectual disability 31 HP:0001249
6 sleep disturbance 31 HP:0002360
7 prominent supraorbital ridges 31 HP:0000336
8 pes planus 31 HP:0001763
9 autism 31 HP:0000717
10 downslanted palpebral fissures 31 HP:0000494
11 pointed chin 31 HP:0000307
12 wide nose 31 HP:0000445
13 tall stature 31 HP:0000098

Drugs & Therapeutics for Autism 18

Search Clinical Trials , NIH Clinical Center for Autism 18

Genetic Tests for Autism 18

Genetic tests related to Autism 18:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, 18 28 CHD8

Anatomical Context for Autism 18

Publications for Autism 18

Variations for Autism 18

ClinVar genetic disease variations for Autism 18:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD8 CHD8, SER62TER undetermined variant risk factor
2 CHD8 CHD8, 1-BP INS, T insertion risk factor
3 CHD8 CHD8, NT3519, A-G, -2 single nucleotide variant risk factor
4 CHD8 NM_020920.3(CHD8): c.2875C> T (p.Gln959Ter) single nucleotide variant risk factor rs397514551 GRCh37 Chromosome 14, 21871178: 21871178
5 CHD8 NM_020920.3(CHD8): c.3172C> T (p.Arg1058Ter) single nucleotide variant risk factor rs397514552 GRCh37 Chromosome 14, 21870169: 21870169
6 CHD8 CHD8, 4-BP DEL, CTTC deletion risk factor
7 CHD8 CHD8, 2-BP DEL, CT deletion risk factor
8 CHD8 CHD8, 1-BP INS, T insertion risk factor
9 CHD8 CHD8, 3-BP DEL, GGT deletion risk factor
10 CHD8 NM_020920.3(CHD8): c.4290+1G> A single nucleotide variant Likely pathogenic rs794727436 GRCh37 Chromosome 14, 21863975: 21863975
11 CHD8 NM_001170629.1(CHD8): c.2317C> T (p.Arg773Ter) single nucleotide variant Likely pathogenic rs776631057 GRCh38 Chromosome 14, 21409898: 21409898
12 CHD8 NM_001170629.1(CHD8): c.1744C> T (p.Arg582Ter) single nucleotide variant Likely pathogenic rs863224857 GRCh38 Chromosome 14, 21415880: 21415880
13 CHD8 NM_020920.3(CHD8): c.4429dupT (p.Tyr1477Leufs) duplication Pathogenic rs886043086 GRCh37 Chromosome 14, 21863195: 21863195
14 CHD8 NM_001170629.1(CHD8): c.6518C> A (p.Ser2173Ter) single nucleotide variant Pathogenic rs781575717 GRCh37 Chromosome 14, 21860919: 21860919
15 CHD8 NM_001170629.1(CHD8): c.2434C> T (p.Arg812Trp) single nucleotide variant Likely pathogenic rs1057518651 GRCh37 Chromosome 14, 21876915: 21876915
16 CHD8 NM_001170629.1(CHD8): c.6103C> T (p.Arg2035Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1131691627 GRCh37 Chromosome 14, 21861851: 21861851
17 CHD8 NM_001170629.1(CHD8): c.347delC (p.Thr116Asnfs) deletion Pathogenic rs1135401763 GRCh38 Chromosome 14, 21431297: 21431297
18 CHD8 NM_020920.3(CHD8): c.2887C> T (p.Arg963Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21402494: 21402494

Expression for Autism 18

Search GEO for disease gene expression data for Autism 18.

Pathways for Autism 18

GO Terms for Autism 18

Sources for Autism 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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